Abstract
Hypoparathyroidism, sensorineural deafness and renal dysplasia syndrome (HDRS) is comprised of a triad of conditions. It is an autosomal dominant condition caused by mutations in the GATA3 gene, located at 10p15, a critical region in the development of the embryonic parathyroid glands, inner ear, and kidneys. Here we describe the case of a patient with all three components of HDR syndrome diagnosed in the neonatal period who presented with cerebral infarction, hypocalcemia, and renal anomalies. Upon chromosomal microarray he was found to have an interstitial deletion at 10p, which produced a partial deletion in the GATA3 gene.
Acknowledgments
We thank Elizabeth G. Lipman Diaz for the help she provided reviewing and editing the original manuscript.
References
1. Barakat AY, D’Albora JB, Martin MM, Jose PA. Familial nephrosis, nerve deafness, and hypoparathyroidism. J Pediatr 1977;91:61–4.10.1016/S0022-3476(77)80445-9Search in Google Scholar
2. Bilous RW, Murty G, Parkinson DB, Thakker RV, Coulthard MG, et al. Autosomal dominant familial hypoparathyroidism, sensorineural deafness, and renal dysplasia. New Engl J Med 1992;327:1069–74.10.1056/NEJM199210083271506Search in Google Scholar
3. Hasegawa T, Hasegawa Y, Aso T, Koto S, Nagai T, et al. HDR syndrome (hypoparathyroidism, sensorineural deafness, renal dysplasia) associated with del(10)(p13). Am J Med Genet 1997;73:416–8.10.1002/(SICI)1096-8628(19971231)73:4<416::AID-AJMG9>3.0.CO;2-LSearch in Google Scholar
4. Van Esch H, Groenen P, Nesbit MA, Schuffenhauer S, Lichtner P, et al. GATA3 haplo-insufficiency causes human HDR syndrome. Nature 2000;406:419–22.10.1038/35019088Search in Google Scholar
5. Joulin V, Bories D, Eleout JF, Labastie MC, Chretien S, et al. A T-cell specific TCR delta DNA binding protein is a member of the human GATA family. EMBO J 1991;10:1809–16.10.1002/j.1460-2075.1991.tb07706.xSearch in Google Scholar
6. Ferraris S, Del Monaco AG, Garelli E, Carando A, De Vito B, et al. HDR syndrome: a novel “de novo” mutation in GATA3 gene. Am J Med Genet A 2009;15:770–5.10.1002/ajmg.a.32689Search in Google Scholar
7. Fukami M, Muroya K, Miyake T, Iso M, Kato F, et al. GATA3 abnormalities in six patients with HDR syndrome. Endocrinol J 2011;58:117–21.10.1507/endocrj.K10E-234Search in Google Scholar
8. Nesbit MA, Bowl MR, Harding B, Ali A, Ayala A, et al. Characterization of GATA3 mutations in the hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome. J Biol Chem 2004;279:22624–34.10.1074/jbc.M401797200Search in Google Scholar
9. van der Wees J, van Looij MA, de Ruiter MM, Elias H, van der Burg H, et al. Hearing loss following Gata3 haploinsufficiency is caused by cochlear disorder. Neurobiol Dis 2004;16:169–78.10.1016/j.nbd.2004.02.004Search in Google Scholar
10. Lim, K-C, Lakshmanan G, Crawford SE, Gu Y, Grosveld F, et al. Gata3 loss leads to embryonic lethality due to noradrenaline deficiency of the sympathetic nervous system. Nature Genet 2001;25:209–12.10.1038/76080Search in Google Scholar
11. Nakamura A, Fujiwara F, Hasegawa Y, Ishizy K, Mabe A, et al. Molecular analysis of the GATA3 gene in five Japanese patients with HDR syndrome. Endocrinol J 2011;58:123–30.10.1507/endocrj.K10E-246Search in Google Scholar
12. Fujimoto S, Yokochi K, Morikawa H, Nakano M, Shibata H, et al. Recurrent cerebral infarctions and del (10) (p14p15.1) de novo in HDR (hypoparathyroidism, sensorineural deafness, renal dysplasia) syndrome. Am J Med Genet 1999;86:427–9.10.1002/(SICI)1096-8628(19991029)86:5<427::AID-AJMG6>3.0.CO;2-ISearch in Google Scholar
13. Shaw NJ, Haigh D, Lealmann GT, Karbani G, Brocklebank JT, et al. Autosomal recessive hypoparathyroidism with renal insufficiency and developmental delay. Arch Dis Child 1991;66:1191–4.10.1136/adc.66.10.1191Search in Google Scholar
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